Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease‐like syndromes. The first case (g...

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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Brief Communications
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771320/
https://ncbi.nlm.nih.gov/pubmed/29376097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.511
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